Angelina Jolie Double Masectomy: What Is The BRCA1 And BRCA2 Gene?

By Staff Reporter on May 14, 2013 10:28 AM EDT

Angelina Jolie
Angelina Jolie (Photo: Creative Commons)

Angelina Jolie announced her preventative double mastectomy treatment in an insightful op-ed piece, "My Medical Choice," in the New York Times this morning. An inspirational movie star that lives a rather private life with her partner Brad Pitt, the article offered a rare moment for Angelina Jolie to connect with women that share similar medical risks.

In 2007, Angelina Jolie lost her mother, Marcheline Bertrand, to ovarian cancer. Bertrand was 56. Following her mother's death, Angelina Jolie decided to be more proactive about understanding what is going on with her body.

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"I carry a 'faulty' gene, BRCA1, which sharply increases my risk of developing breast cancer and ovarian cancer," announced Angelina Jolie to the New York Times.

"My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is different in the case of each woman.

"Only a fraction of breast cancers result from an inherited gene mutation. Those with a defect in BRCA1 have a 65 percent risk of getting it, on average."

A "faulty" BRCA1 and BRCA2 gene, also known as a BRCA mutation, causes hereditary breast-ovarian cancer syndrome. While a BRCA mutation is extremely uncommon, hereditary breast-ovarian cancer syndrome accounts for nearly 10 percent of all breast cancer in women. The BRCA1 gene (Breast cancer type 1 susceptibility protein) is categorized as a "human caretaker" gene that is responsible for repairing DNA.

BRCA2 (Breast cancer type 2 susceptibility protein) is of the tumor suppressor gene family. However, BRCA mutations, an abnormal insertions or deletion of DNA base pairs, cause the genes to malfunction. Mutations potentially cause uncontrolled cell division that lead to cancerous tumors.

According to statistics, women with BRCA1 and BRCA2 mutations are five times as likely to get breast cancer and ten to thirty times more likely to get ovarian cancer. Doctors have yet to understand why BRCA1 and BRCA2 mutations increase the risk of breast and ovarian cancer so dramatically.

Understanding her situation, Angelina Jolie made the bold decision to minimize the risk of cancer as much as possible by undergoing a preventive double mastectomy.

An extensive multiple procedure treatment (two mastectomy operations and one breast reconstruction surgery) that took 3 months to complete, Angelina Jolie's preventative double mastectomy was finally complete on April 27.

"I am writing about it now because I hope that other women can benefit from my experience," said Angelina Jolie. "Cancer is still a word that strikes fear into people's hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action."

Inspiring others as a mother and a woman, Angelina Jolie announced:

"I wanted to write this to tell other women that the decision to have a mastectomy was not easy," Angelina Jolie said. "But it is one I am very happy that I made. My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children that they don't need to fear they will lose me to breast cancer."

"On a personal note, I do not feel any less of a woman. I feel empowered that I made a strong choice that in no way diminishes my femininity... Life comes with many challenges. The ones that should not scare us are the ones we can take on and take control of." 

READ MORE:

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